SF1[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2232470	NM_004630.4(SF1):c.*348T>C	SF1 (F544S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259635	NM_004630.4(SF1):c.*339T>A	SF1 (S539R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289087	NM_004630.4(SF1):c.*332A>G	SF1 (H425R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160786	NM_004630.4(SF1):c.*313G>A	SF1 (G534S +4 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3317811	NM_004630.4(SF1):c.1566C>T (p.Pro522=)	SF1 (L409F +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3160785	NM_004630.4(SF1):c.1440G>A (p.Pro480=)	SF1 (A479T +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2551806	NM_004630.4(SF1):c.1439C>T (p.Pro480Leu)	SF1 (P365L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160784	NM_004630.4(SF1):c.1437G>A (p.Pro479=)	SF1 (A481T +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3317814	NM_004630.4(SF1):c.1429A>T (p.Met477Leu)	SF1 (H475L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160783	NM_004630.4(SF1):c.1416A>G (p.Pro472=)	SF1 (T471A +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2288239	NM_004630.4(SF1):c.1364C>T (p.Pro455Leu)	SF1 (P340L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556268	NM_004630.4(SF1):c.1336C>G (p.Pro446Ala)	SF1 (P446A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389218	NM_004630.4(SF1):c.1186A>G (p.Ser396Gly)	SF1 (S370G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407721	NM_004630.4(SF1):c.1115G>T (p.Gly372Val)	SF1 (G346V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160782	NM_004630.4(SF1):c.1099C>T (p.Pro367Ser)	SF1 (P341S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276644	NM_004630.4(SF1):c.1045C>T (p.Pro349Ser)	SF1 (P234S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308418	NM_004630.4(SF1):c.923G>A (p.Arg308Gln)	SF1 (R308Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160781	NM_004630.4(SF1):c.826A>G (p.Thr276Ala)	SF1 (T161A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160793	NM_004630.4(SF1):c.298C>T (p.Arg100Cys)	SF1 (R225C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1321942	NM_004630.4(SF1):c.221del (p.Pro74fs)	SF1 (P199fs +2 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3160791	NM_004630.4(SF1):c.137G>T (p.Arg46Leu)	SF1 (R46L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160790	NM_004630.4(SF1):c.124C>T (p.Pro42Ser)	SF1 (P167S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468325	NM_004630.4(SF1):c.31+358C>T	SF1 (P130L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160789	NM_004630.4(SF1):c.31+352C>T	SF1 (P128L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558394	NM_004630.4(SF1):c.31+349A>G	SF1 (Q127R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569518	NM_004630.4(SF1):c.31+339A>C	SF1 (K124Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317812	NM_004630.4(SF1):c.31+336C>T	SF1 (R123C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276751	NM_004630.4(SF1):c.31+325C>T	SF1 (P119L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281573	NM_004630.4(SF1):c.31+316C>G	SF1 (P116R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378553	NM_004630.4(SF1):c.31+286C>T	SF1 (P106L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372987	NM_004630.4(SF1):c.31+285C>T	SF1 (P106S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244398	NM_004630.4(SF1):c.31+277C>T	SF1 (P103L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160788	NM_004630.4(SF1):c.31+274C>T	SF1 (P102L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410395	NM_004630.4(SF1):c.31+265C>T	SF1 (P99L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317813	NM_004630.4(SF1):c.31+264C>T	SF1 (P99S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245360	NM_004630.4(SF1):c.31+259C>T	SF1 (P97L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397062	NM_004630.4(SF1):c.31+256A>G	SF1 (Y96C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495184	NM_004630.4(SF1):c.31+240T>G	SF1 (S91A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160787	NM_004630.4(SF1):c.31+216C>T	SF1 (P83S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281467	NM_004630.4(SF1):c.31+196C>T	SF1 (P76L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382176	NM_004630.4(SF1):c.31+141G>A	SF1 (A58T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331558	NM_004630.4(SF1):c.31+139G>C	SF1 (G57A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601317	NM_004630.4(SF1):c.31+54G>C	SF1 (E29Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160792	NM_004630.4(SF1):c.31+24C>T	SF1 (P19S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457753	NM_004630.4(SF1):c.18C>A (p.Asn6Lys)	SF1 (N6K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246351	NM_004630.4(SF1):c.18C>G (p.Asn6Lys)	SF1 (N6K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244550	NC_000011.9:g.(?_63731700)_(64572142_?)del	BAD, CATSPERZ +28 more	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685408	GRCh37/hg19 11q13.1(chr11:63643711-64533636)x1	BAD, CATSPERZ +29 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 687992	GRCh37/hg19 11q13.1(chr11:64396501-64883447)x3	ARL2, ATG2A +21 more	Copy number gain	not provided	GUncertain significance
Select item 687683	GRCh37/hg19 11q13.1(chr11:64474135-64611928)x3	MEN1, NRXN2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 219033	GRCh37/hg19 11q13.1(chr11:64485197-64691737)x3	EHD1, MAP4K2 +9 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Items: 60